Canonical Allele Identifier: CA560883618

Linked Data

dbSNP Id: rs1362304249
gnomAD v2: 5-86681228-A-C
gnomAD v3: 5-87385411-A-C
gnomAD v4: 5-87385411-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.87385411A>C , CM000667.2:g.87385411A>C GRCh38
NC_000005.9:g.86681228A>C , CM000667.1:g.86681228A>C GRCh37
NC_000005.8:g.86716984A>C NCBI36
NG_011650.1:g.122078A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274376.11:c.2847+22A>C (RASA1) MANE Select ENSP00000274376.6:n.2847+22A>C
ENST00000645953.1:c.*90+7359T>G (CCNH) ENSP00000494460.1:n.*90+7359T>G
ENST00000646883.1:c.254+7359T>G (CCNH)
ENST00000274376.10:c.2847+22A>C (RASA1) ENSP00000274376.6:n.2847+22A>C
ENST00000456692.6:c.2316+22A>C (RASA1) ENSP00000411221.2:n.2316+22A>C
ENST00000506290.1:c.2349+22A>C (RASA1) ENSP00000420905.1:n.2349+22A>C
ENST00000512763.5:c.2346+22A>C (RASA1) ENSP00000422008.1:n.2346+22A>C
ENST00000515800.6:c.*1372+22A>C (RASA1) ENSP00000423395.2:n.*1372+22A>C
NM_002890.2:c.2847+22A>C (RASA1) NP_002881.1:n.2847+22A>C
NM_022650.2:c.2316+22A>C (RASA1) NP_072179.1:n.2316+22A>C
XM_011543525.1:c.2760+22A>C (RASA1) XP_011541827.1:n.2760+22A>C
XM_011543526.1:c.2847+22A>C (RASA1) XP_011541828.1:n.2847+22A>C
NM_001364075.1:c.933+9633T>G (CCNH) NP_001351004.1:n.933+9633T>G
NR_157068.1:n.1447+7359T>G (CCNH)
NR_157069.1:n.1040+7359T>G (CCNH)
NR_157070.1:n.1204+7359T>G (CCNH)
XM_011543525.2:c.2760+22A>C (RASA1) XP_011541827.1:n.2760+22A>C
NM_001364075.2:c.933+9633T>G (CCNH) NP_001351004.1:n.933+9633T>G
NM_002890.3:c.2847+22A>C (RASA1) MANE Select NP_002881.1:n.2847+22A>C
NR_157068.2:n.1447+7359T>G (CCNH)
NR_157069.2:n.1040+7359T>G (CCNH)
NR_157070.2:n.1204+7359T>G (CCNH)
NM_022650.3:c.2316+22A>C (RASA1) NP_072179.1:n.2316+22A>C